Molecular characteristics of diffuse lower grade gliomas: what neurosurgeons need to know
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REVIEW ARTICLE - TUMOR - GLIOMA
Molecular characteristics of diffuse lower grade gliomas: what neurosurgeons need to know Jacob S. Young 1
&
Andrew J. Gogos 1 & Ramin A. Morshed 1 & Shawn L. Hervey-Jumper 1 & Mitchel S. Berger 1
Received: 19 March 2020 / Accepted: 21 May 2020 # Springer-Verlag GmbH Austria, part of Springer Nature 2020
Abstract The importance of genomic information in intrinsic brain tumors is highlighted in the World Health Organization (WHO) 2016 classification of gliomas, which now incorporates both phenotype and genotype data to assign a diagnosis. By using genetic markers to both categorize tumors and advise patients on prognosis, this classification system has minimized the risk of tissue sampling error, improved diagnostic accuracy, and reduced inter-rater variability. In the neurosurgical community, it is critical to understand the role genetics plays in tumor biology, what certain mutations mean for the patient’s prognosis and adjuvant treatment, and how to interpret the results of sequencing data that are generated following tumor resection. In this review, we examine the critical role of genetics for diagnosis and prognosis and highlight the importance of tumor genetics for neurosurgeons caring for patients with diffuse lower grade gliomas. Keywords Low-grade glioma . Molecular markers . Diagnosis . Prognosis . Targeted therapy . Surgical management
Abbreviations LGG Low-grade glioma GBM Glioblastoma WHO World Health Organization IDH Isocitrate dehydrogenase GWAS Genome wide association study IHC Immunohistochemistry 2-HG 2-Hydroxyglutarate
Introduction Genomics has revolutionized how many solid malignancies are classified and treated. Not surprisingly, the introduction of next-generation sequencing has transformed the classification of low-grade gliomas (LGGs) and high-grade gliomas from a histological definition to a
molecular one (for a list of landmark papers see Table 1) [99]. This revolution is highlighted in the World Health Organization (WHO) 2016 classification of gliomas, which incorporated both phenotype and genotype data to assign a diagnosis. In addition to clarifying diagnoses, a tumor’s molecular profile can aid in prognostication, identify potentially targetable mutations, and select for appropriate clinical trial enrollment. As a result, in addition to understanding how a tumor’s size, location, and performance status influence a patient’s outcome, it is now necessary for surgeons to understand the mutational profile of a diffuse lower grade glioma, as the tumor’s individual mutation profile is critical for appropriate prognostication and patient education. In this comprehensive, non-systematic review, we discuss these relevant molecular markers for low and lower (i.e., grade II or III) grade gliomas.
This article is part of the Topical Collection on Tumor - Glioma
2016 World Health Organization classification
* Jacob S. Young [email protected]
The 2016 Revised 4th edition of the WHO classification of tumors of the central nervous system represents a conce
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